Canonical Allele Identifier: CA413919484

Gene: BTK

Linked Data

• MyVariant Identifiers: chrX:g.100608318T>C (hg19) ; chrX:g.101353330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353330T>C , CM000685.2:g.101353330T>C	GRCh38
NC_000023.10:g.100608318T>C , CM000685.1:g.100608318T>C	GRCh37
NC_000023.9:g.100494974T>C	NCBI36
NG_009616.1:g.37895A>G , LRG_128:g.37895A>G
NG_011734.1:g.640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3289A>G
ENST00000488970.2:n.3928A>G
ENST00000695614.1:c.1772A>G	ENSP00000512053.1:p.Tyr591Cys
ENST00000695615.1:c.1772A>G	ENSP00000512054.1:p.Tyr591Cys
ENST00000695616.1:c.*1617A>G	ENSP00000512055.1:n.*1617A>G
ENST00000695617.1:c.1769A>G	ENSP00000512056.1:p.Tyr590Cys
ENST00000695618.1:c.*1521A>G	ENSP00000512058.1:n.*1521A>G
ENST00000695619.1:c.*1482A>G	ENSP00000512059.1:n.*1482A>G
ENST00000695620.1:c.*1698A>G	ENSP00000512060.1:n.*1698A>G
ENST00000695621.1:c.*197A>G	ENSP00000512061.1:n.*197A>G
ENST00000695622.1:c.1709A>G	ENSP00000512062.1:p.Tyr570Cys
ENST00000695623.1:c.1766A>G	ENSP00000512063.1:p.Tyr589Cys
ENST00000695624.1:n.1077A>G
ENST00000695625.1:c.1772A>G	ENSP00000512064.1:p.Tyr591Cys
ENST00000695626.1:c.527A>G	ENSP00000512065.1:n.527A>G
ENST00000695627.1:c.720A>G	ENSP00000512066.1:n.720A>G
ENST00000695628.1:c.331A>G	ENSP00000512067.1:n.331A>G
ENST00000695629.1:c.212A>G	ENSP00000512068.1:p.Tyr71Cys
ENST00000695630.1:c.499A>G
ENST00000695631.1:c.115-82A>G
ENST00000703407.1:c.1244A>G	ENSP00000512057.1:p.Tyr415Cys
ENST00000308731.8:c.1772A>G MANE Select	ENSP00000308176.8:p.Tyr591Cys
ENST00000308731.7:c.1772A>G	ENSP00000308176.7:p.Tyr591Cys
ENST00000372880.5:c.1244A>G	ENSP00000361971.1:p.Tyr415Cys
ENST00000470069.1:n.137A>G
ENST00000488970.1:n.374A>G
ENST00000618050.4:c.1771A>G	ENSP00000479125.1:n.1771A>G
ENST00000621635.4:c.1874A>G	ENSP00000483570.1:p.Tyr625Cys
NM_000061.2:c.1772A>G , LRG_128t1:c.1772A>G	NP_000052.1:p.Tyr591Cys
NM_001287344.1:c.1874A>G	NP_001274273.1:p.Tyr625Cys
NM_001287345.1:c.1244A>G	NP_001274274.1:p.Tyr415Cys
NM_000061.3:c.1772A>G MANE Select	NP_000052.1:p.Tyr591Cys
NM_001287344.2:c.1874A>G	NP_001274273.1:p.Tyr625Cys
NM_001287345.2:c.1244A>G	NP_001274274.1:p.Tyr415Cys